Varaico: Literature-Extracted Genetic Variants

PRDM9

190 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein cont...

Pfam Domains

KRABaa 27–65UCSCKRAB box

SSXRDaa 171–201UCSCSSXRD motif

PRDM2_PRaa 246–368UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2_5aa 387–408UCSCC2H2-type zinc finger

zf-C2H2aa 552–574UCSCZinc finger, C2H2 type

zf-C2H2aa 580–602UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 9

HGNC Previous Symbol

MSBP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_020227.4

p.R765S

c.2295A>C

Surrounding Variants

8 papers

NM_020227.4

p.R765S

c.2295A>T

1 paper

NM_020227.4

p.H762L

c.2285A>T

3 papers

NM_020227.4

p.T769R

c.2306C>G

1 paper

NM_020227.4

p.K760N

c.2280G>C

1 paper

NM_020227.4

p.K760N

c.2280G>T

1 paper

NM_020227.4

p.D759E

c.2277T>A

1 paper

NM_020227.4

p.D759E

c.2277T>G

3 papers

NM_020227.4

p.D759N

c.2275G>A

1 paper

NM_020227.4

p.D759Y

c.2275G>T

1 paper

NM_020227.4

p.E773G

c.2318A>G

3 papers

NM_020227.4

p.R758S

c.2272C>A

1 paper

NM_020227.4

p.R758insFs

c.2272_2273insTG